Canonical Allele Identifier: CA2683084982

Gene: ASL

Linked Data

• gnomAD v4: 7-66086836-AGTGCCCCGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086838_66086847del , CM000669.2:g.66086838_66086847del	GRCh38
NC_000007.13:g.65551825_65551834del , CM000669.1:g.65551825_65551834del	GRCh37
NC_000007.12:g.65189260_65189269del	NCBI36
NG_009288.1:g.16050_16059del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.602+17_602+26del MANE Select	ENSP00000307188.9:n.602+17_602+26del
ENST00000362000.10:c.407+17_407+26del	ENSP00000354710.6:n.407+17_407+26del
ENST00000380839.9:c.524+176_524+185del	ENSP00000370219.4:n.524+176_524+185del
ENST00000395331.4:c.602+17_602+26del	ENSP00000378740.3:n.602+17_602+26del
ENST00000395332.8:c.602+17_602+26del	ENSP00000378741.3:n.602+17_602+26del
ENST00000671817.1:c.524+176_524+185del	ENSP00000500462.1:n.524+176_524+185del
ENST00000672498.1:c.447-891_447-882del	ENSP00000500227.1:n.447-891_447-882del
ENST00000672586.1:n.524_533del
ENST00000672676.1:n.789_798del
ENST00000673149.1:n.414+17_414+26del
ENST00000673350.1:n.867_876del
ENST00000673518.1:c.524+176_524+185del	ENSP00000499889.1:n.524+176_524+185del
ENST00000673594.1:n.451+17_451+26del
ENST00000304874.13:c.602+17_602+26del	ENSP00000307188.9:n.602+17_602+26del
ENST00000362000.9:c.407+17_407+26del	ENSP00000354710.5:n.407+17_407+26del
ENST00000380839.8:c.524+176_524+185del	ENSP00000370219.4:n.524+176_524+185del
ENST00000395331.3:c.602+17_602+26del	ENSP00000378740.3:n.602+17_602+26del
ENST00000395332.7:c.602+17_602+26del	ENSP00000378741.3:n.602+17_602+26del
ENST00000487982.5:n.685_694del
NM_000048.3:c.602+17_602+26del	NP_000039.2:n.602+17_602+26del
NM_001024943.1:c.602+17_602+26del	NP_001020114.1:n.602+17_602+26del
NM_001024944.1:c.602+17_602+26del	NP_001020115.1:n.602+17_602+26del
NM_001024946.1:c.524+176_524+185del	NP_001020117.1:n.524+176_524+185del
NM_000048.4:c.602+17_602+26del MANE Select	NP_000039.2:n.602+17_602+26del
NM_001024943.2:c.602+17_602+26del	NP_001020114.1:n.602+17_602+26del
NM_001024944.2:c.602+17_602+26del	NP_001020115.1:n.602+17_602+26del
NM_001024946.2:c.524+176_524+185del	NP_001020117.1:n.524+176_524+185del